Updated guidelines for managing patients with antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis (AAV) from the British Society for Rheumatology (BSR) were published recently in ...

Caregivers and healthcare providers of patients with hemophilia both expressed unmet needs regarding information provision, a problem that may be remedied by using digital information platforms, ...

Japanese women with Fabry disease experience “substantial emotional burdens” and do not receive support from their doctors and community, found a new study published in the scientific journal ...

A significant proportion of patients with B-cell acute lymphoblastic leukemia (B-ALL) require third-line treatment after relapse from prior therapies, according to findings recently presented at the ...

Researchers from Brazil developed a new clinical score to estimate the probability of neuromyelitis optica spectrum disorder (NMOSD) in patients presenting with optic neuritis. The easily accessible ...

Clinically relevant concentrations of deoxycytidine (dC) and deoxythymidine (dT) are unlikely to cause or be subject to pharmacokinetic drug-drug interactions, according to a new study published in ...

Larry Luxner, senior correspondent for Rare Disease Advisor, interviews former college basketball player Dan Lier, a partner with the nonprofit group Somebody To Talk To, about his new “Rare Disease ...

Immunoglobulin G4-related disease (IgG4-RD) is a rare fibroinflammatory disorder that can affect any organ in the body. This term has only been used in the last 2 decades or so, and this disease ...

In patients with suspected IgG4-RD, a diagnosis typically takes some time, involving physical examination, imaging, laboratory testing, and pathology. The tumefactive lesions that are the hallmark of ...

In patients with chronic lymphocytic leukemia (CLL), del (11q) rather than ATM mutations independently predict shorter time-to-first-treatment and overall survival, clarifying the clinical impact of ...

Individuals with homozygous ZZ alpha-1 antitrypsin deficiency (AATD) face a substantial burden of liver disease, according to results of a meta-analysis recently published in Liver International ...

Novel findings in the pathophysiology of Huntington disease (HD) could unlock a new imaging-based marker for disease burden and clinical decline, according to a study recently published in Movement ...